Canonical Allele Identifier: CA341558967

Gene: AMPD2

Linked Data

• dbSNP Id: rs1650934255
• gnomAD v4: 1-109628661-G-A
• MyVariant Identifiers: chr1:g.110171283G>A (hg19) ; chr1:g.109628661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628661G>A , CM000663.2:g.109628661G>A	GRCh38
NC_000001.10:g.110171283G>A , CM000663.1:g.110171283G>A	GRCh37
NC_000001.9:g.109972806G>A	NCBI36
NG_034075.1:g.13849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1426G>A	ENSP00000256578.4:p.Glu476Lys
ENST00000358729.9:c.1426G>A	ENSP00000351573.5:p.Glu476Lys
ENST00000369840.7:c.1426G>A	ENSP00000358855.3:p.Glu476Lys
ENST00000474459.6:n.2045G>A
ENST00000476688.3:c.1108G>A	ENSP00000437025.2:p.Glu370Lys
ENST00000486282.7:n.2382G>A
ENST00000524975.2:n.1907G>A
ENST00000525415.2:n.1942G>A
ENST00000526301.6:n.1489G>A
ENST00000527846.7:n.1281G>A
ENST00000528667.7:c.1426G>A MANE Select	ENSP00000436541.2:p.Glu476Lys
ENST00000531203.6:c.1234G>A	ENSP00000431975.2:p.Glu412Lys
ENST00000531734.6:c.1345G>A	ENSP00000433739.2:p.Glu449Lys
ENST00000652975.2:c.*1178G>A	ENSP00000499620.2:n.*1178G>A
ENST00000654851.1:n.1268G>A
ENST00000655992.1:c.1234G>A	ENSP00000499740.1:p.Glu412Lys
ENST00000659122.2:c.1407+166G>A	ENSP00000499621.2:n.1407+166G>A
ENST00000663749.1:c.*1173G>A	ENSP00000499739.1:n.*1173G>A
ENST00000667949.2:c.826G>A	ENSP00000499465.2:p.Glu276Lys
ENST00000668421.1:c.*1367G>A	ENSP00000499362.1:n.*1367G>A
ENST00000679379.1:c.*1178G>A	ENSP00000505528.1:n.*1178G>A
ENST00000679593.1:c.1426G>A	ENSP00000505999.1:p.Glu476Lys
ENST00000679880.1:n.1962G>A
ENST00000679892.1:c.*1194G>A	ENSP00000504882.1:n.*1194G>A
ENST00000679981.1:c.*1440G>A	ENSP00000506422.1:n.*1440G>A
ENST00000680132.1:c.*1376G>A	ENSP00000505950.1:n.*1376G>A
ENST00000680148.1:c.*1178G>A	ENSP00000505994.1:n.*1178G>A
ENST00000680170.1:n.2291G>A
ENST00000680192.1:n.2384G>A
ENST00000680519.1:n.1662G>A
ENST00000680531.1:c.*1173G>A	ENSP00000506332.1:n.*1173G>A
ENST00000680820.1:c.*1178G>A	ENSP00000505735.1:n.*1178G>A
ENST00000680832.1:c.*1526G>A	ENSP00000505774.1:n.*1526G>A
ENST00000680929.1:c.*1115G>A	ENSP00000504916.1:n.*1115G>A
ENST00000681108.1:c.*1245+166G>A	ENSP00000506701.1:n.*1245+166G>A
ENST00000681121.1:c.*536G>A	ENSP00000506466.1:n.*536G>A
ENST00000681132.1:c.*1192G>A	ENSP00000506195.1:n.*1192G>A
ENST00000681181.1:c.*1411G>A	ENSP00000506038.1:n.*1411G>A
ENST00000681218.1:c.*1699G>A	ENSP00000505976.1:n.*1699G>A
ENST00000681246.1:c.*1082G>A	ENSP00000505534.1:n.*1082G>A
ENST00000681496.1:c.*1699G>A	ENSP00000505948.1:n.*1699G>A
ENST00000681834.1:n.1765G>A
ENST00000681862.1:c.*1552G>A	ENSP00000505537.1:n.*1552G>A
ENST00000256578.7:c.1588G>A	ENSP00000256578.3:p.Glu530Lys
ENST00000342115.8:c.1345G>A	ENSP00000345498.4:p.Glu449Lys
ENST00000358729.8:c.1363G>A	ENSP00000351573.4:p.Glu455Lys
ENST00000369840.6:c.1499G>A
ENST00000393688.7:c.1231G>A	ENSP00000377292.3:p.Glu411Lys
ENST00000526301.5:n.1627G>A
ENST00000528454.5:c.1234G>A	ENSP00000437164.1:p.Glu412Lys
ENST00000528667.5:c.1588G>A	ENSP00000436541.1:p.Glu530Lys
ENST00000532851.1:n.136G>A
ENST00000533132.1:n.128G>A
NM_001257360.1:c.1588G>A	NP_001244289.1:p.Glu530Lys
NM_001257361.1:c.1234G>A	NP_001244290.1:p.Glu412Lys
NM_001308170.1:c.1363G>A	NP_001295099.1:p.Glu455Lys
NM_004037.7:c.1588G>A	NP_004028.3:p.Glu530Lys
NM_139156.3:c.1345G>A	NP_631895.1:p.Glu449Lys
NM_203404.1:c.1231G>A	NP_981949.1:p.Glu411Lys
XM_011541247.1:c.1801G>A	XP_011539549.1:p.Glu601Lys
XM_011541248.1:c.1782+166G>A	XP_011539550.1:n.1782+166G>A
XR_946607.1:n.1824G>A
XM_024446431.1:c.1363G>A	XP_024302199.1:p.Glu455Lys
XM_024446432.1:c.1430+166G>A	XP_024302200.1:n.1430+166G>A
XR_002956282.1:n.1999G>A
NM_001257360.2:c.1588G>A	NP_001244289.1:p.Glu530Lys
NM_001368809.2:c.1426G>A MANE Select	NP_001355738.1:p.Glu476Lys
NM_004037.9:c.1426G>A	NP_004028.4:p.Glu476Lys
NM_001257361.2:c.1234G>A	NP_001244290.1:p.Glu412Lys
NM_139156.4:c.1345G>A	NP_631895.1:p.Glu449Lys