Canonical Allele Identifier: CA419684453

Gene: AMPD2

Linked Data

• dbSNP Id: rs1191207122
• gnomAD v2: 1-110171261-C-G
• gnomAD v4: 1-109628639-C-G
• MyVariant Identifiers: chr1:g.110171261C>G (hg19) ; chr1:g.109628639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628639C>G , CM000663.2:g.109628639C>G	GRCh38
NC_000001.10:g.110171261C>G , CM000663.1:g.110171261C>G	GRCh37
NC_000001.9:g.109972784C>G	NCBI36
NG_034075.1:g.13827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1408-4C>G	ENSP00000256578.4:n.1408-4C>G
ENST00000358729.9:c.1408-4C>G	ENSP00000351573.5:n.1408-4C>G
ENST00000369840.7:c.1408-4C>G	ENSP00000358855.3:n.1408-4C>G
ENST00000474459.6:n.2027-4C>G
ENST00000476688.3:c.1090-4C>G	ENSP00000437025.2:n.1090-4C>G
ENST00000486282.7:n.2360C>G
ENST00000524975.2:n.1885C>G
ENST00000525415.2:n.1924-4C>G
ENST00000526301.6:n.1471-4C>G
ENST00000527846.7:n.1263-4C>G
ENST00000528667.7:c.1408-4C>G MANE Select	ENSP00000436541.2:n.1408-4C>G
ENST00000531203.6:c.1216-4C>G	ENSP00000431975.2:n.1216-4C>G
ENST00000531734.6:c.1327-4C>G	ENSP00000433739.2:n.1327-4C>G
ENST00000652975.2:c.*1160-4C>G	ENSP00000499620.2:n.*1160-4C>G
ENST00000654851.1:n.1250-4C>G
ENST00000655992.1:c.1216-4C>G	ENSP00000499740.1:n.1216-4C>G
ENST00000659122.2:c.1407+144C>G	ENSP00000499621.2:n.1407+144C>G
ENST00000663749.1:c.*1155-4C>G	ENSP00000499739.1:n.*1155-4C>G
ENST00000667949.2:c.808-4C>G	ENSP00000499465.2:n.808-4C>G
ENST00000668421.1:c.*1349-4C>G	ENSP00000499362.1:n.*1349-4C>G
ENST00000679379.1:c.*1160-4C>G	ENSP00000505528.1:n.*1160-4C>G
ENST00000679593.1:c.1408-4C>G	ENSP00000505999.1:n.1408-4C>G
ENST00000679880.1:n.1940C>G
ENST00000679892.1:c.*1176-4C>G	ENSP00000504882.1:n.*1176-4C>G
ENST00000679981.1:c.*1422-4C>G	ENSP00000506422.1:n.*1422-4C>G
ENST00000680132.1:c.*1358-4C>G	ENSP00000505950.1:n.*1358-4C>G
ENST00000680148.1:c.*1160-4C>G	ENSP00000505994.1:n.*1160-4C>G
ENST00000680170.1:n.2269C>G
ENST00000680192.1:n.2362C>G
ENST00000680519.1:n.1644-4C>G
ENST00000680531.1:c.*1155-4C>G	ENSP00000506332.1:n.*1155-4C>G
ENST00000680820.1:c.*1160-4C>G	ENSP00000505735.1:n.*1160-4C>G
ENST00000680832.1:c.*1508-4C>G	ENSP00000505774.1:n.*1508-4C>G
ENST00000680929.1:c.*1097-4C>G	ENSP00000504916.1:n.*1097-4C>G
ENST00000681108.1:c.*1245+144C>G	ENSP00000506701.1:n.*1245+144C>G
ENST00000681121.1:c.*518-4C>G	ENSP00000506466.1:n.*518-4C>G
ENST00000681132.1:c.*1174-4C>G	ENSP00000506195.1:n.*1174-4C>G
ENST00000681181.1:c.*1389C>G	ENSP00000506038.1:n.*1389C>G
ENST00000681218.1:c.*1677C>G	ENSP00000505976.1:n.*1677C>G
ENST00000681246.1:c.*1064-4C>G	ENSP00000505534.1:n.*1064-4C>G
ENST00000681496.1:c.*1677C>G	ENSP00000505948.1:n.*1677C>G
ENST00000681834.1:n.1747-4C>G
ENST00000681862.1:c.*1534-4C>G	ENSP00000505537.1:n.*1534-4C>G
ENST00000256578.7:c.1570-4C>G	ENSP00000256578.3:n.1570-4C>G
ENST00000342115.8:c.1327-4C>G	ENSP00000345498.4:n.1327-4C>G
ENST00000358729.8:c.1345-4C>G	ENSP00000351573.4:n.1345-4C>G
ENST00000369840.6:c.1481-4C>G
ENST00000393688.7:c.1213-4C>G	ENSP00000377292.3:n.1213-4C>G
ENST00000526301.5:n.1609-4C>G
ENST00000528454.5:c.1216-4C>G	ENSP00000437164.1:n.1216-4C>G
ENST00000528667.5:c.1570-4C>G	ENSP00000436541.1:n.1570-4C>G
ENST00000532851.1:n.118-4C>G
ENST00000533132.1:n.106C>G
NM_001257360.1:c.1570-4C>G	NP_001244289.1:n.1570-4C>G
NM_001257361.1:c.1216-4C>G	NP_001244290.1:n.1216-4C>G
NM_001308170.1:c.1345-4C>G	NP_001295099.1:n.1345-4C>G
NM_004037.7:c.1570-4C>G	NP_004028.3:n.1570-4C>G
NM_139156.3:c.1327-4C>G	NP_631895.1:n.1327-4C>G
NM_203404.1:c.1213-4C>G	NP_981949.1:n.1213-4C>G
XM_011541247.1:c.1783-4C>G	XP_011539549.1:n.1783-4C>G
XM_011541248.1:c.1782+144C>G	XP_011539550.1:n.1782+144C>G
XR_946607.1:n.1806-4C>G
XM_024446431.1:c.1345-4C>G	XP_024302199.1:n.1345-4C>G
XM_024446432.1:c.1430+144C>G	XP_024302200.1:n.1430+144C>G
XR_002956282.1:n.1981-4C>G
NM_001257360.2:c.1570-4C>G	NP_001244289.1:n.1570-4C>G
NM_001368809.2:c.1408-4C>G MANE Select	NP_001355738.1:n.1408-4C>G
NM_004037.9:c.1408-4C>G	NP_004028.4:n.1408-4C>G
NM_001257361.2:c.1216-4C>G	NP_001244290.1:n.1216-4C>G
NM_139156.4:c.1327-4C>G	NP_631895.1:n.1327-4C>G