Canonical Allele Identifier: CA341559206

Gene: AMPD2

Linked Data

• ClinVar Variation Id: 2159098
• ClinVar RCV Id: RCV003072637
• dbSNP Id: rs1289426036
• gnomAD v2: 1-110171391-C-T
• gnomAD v3: 1-109628769-C-T
• gnomAD v4: 1-109628769-C-T
• MyVariant Identifiers: chr1:g.110171391C>T (hg19) ; chr1:g.109628769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628769C>T , CM000663.2:g.109628769C>T	GRCh38
NC_000001.10:g.110171391C>T , CM000663.1:g.110171391C>T	GRCh37
NC_000001.9:g.109972914C>T	NCBI36
NG_034075.1:g.13957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1534C>T	ENSP00000256578.4:p.Pro512Ser
ENST00000358729.9:c.1534C>T	ENSP00000351573.5:p.Pro512Ser
ENST00000369840.7:c.1534C>T	ENSP00000358855.3:p.Pro512Ser
ENST00000474459.6:n.2153C>T
ENST00000476688.3:c.1216C>T	ENSP00000437025.2:p.Pro406Ser
ENST00000486282.7:n.2490C>T
ENST00000524975.2:n.2015C>T
ENST00000525415.2:n.2050C>T
ENST00000526301.6:n.1597C>T
ENST00000527846.7:n.1389C>T
ENST00000528667.7:c.1534C>T MANE Select	ENSP00000436541.2:p.Pro512Ser
ENST00000531203.6:c.1342C>T	ENSP00000431975.2:p.Pro448Ser
ENST00000531734.6:c.1453C>T	ENSP00000433739.2:p.Pro485Ser
ENST00000652975.2:c.*1286C>T	ENSP00000499620.2:n.*1286C>T
ENST00000654851.1:n.1376C>T
ENST00000655992.1:c.1342C>T	ENSP00000499740.1:p.Pro448Ser
ENST00000659122.2:c.1407+274C>T	ENSP00000499621.2:n.1407+274C>T
ENST00000663749.1:c.*1281C>T	ENSP00000499739.1:n.*1281C>T
ENST00000667949.2:c.934C>T	ENSP00000499465.2:p.Pro312Ser
ENST00000668421.1:c.*1475C>T	ENSP00000499362.1:n.*1475C>T
ENST00000679379.1:c.*1286C>T	ENSP00000505528.1:n.*1286C>T
ENST00000679593.1:c.1534C>T	ENSP00000505999.1:p.Pro512Ser
ENST00000679880.1:n.2070C>T
ENST00000679892.1:c.*1302C>T	ENSP00000504882.1:n.*1302C>T
ENST00000679981.1:c.*1548C>T	ENSP00000506422.1:n.*1548C>T
ENST00000680132.1:c.*1484C>T	ENSP00000505950.1:n.*1484C>T
ENST00000680148.1:c.*1286C>T	ENSP00000505994.1:n.*1286C>T
ENST00000680170.1:n.2399C>T
ENST00000680192.1:n.2492C>T
ENST00000680519.1:n.1770C>T
ENST00000680531.1:c.*1281C>T	ENSP00000506332.1:n.*1281C>T
ENST00000680820.1:c.*1286C>T	ENSP00000505735.1:n.*1286C>T
ENST00000680832.1:c.*1634C>T	ENSP00000505774.1:n.*1634C>T
ENST00000680929.1:c.*1223C>T	ENSP00000504916.1:n.*1223C>T
ENST00000681108.1:c.*1245+274C>T	ENSP00000506701.1:n.*1245+274C>T
ENST00000681121.1:c.*644C>T	ENSP00000506466.1:n.*644C>T
ENST00000681132.1:c.*1300C>T	ENSP00000506195.1:n.*1300C>T
ENST00000681181.1:c.*1519C>T	ENSP00000506038.1:n.*1519C>T
ENST00000681218.1:c.*1807C>T	ENSP00000505976.1:n.*1807C>T
ENST00000681246.1:c.*1190C>T	ENSP00000505534.1:n.*1190C>T
ENST00000681496.1:c.*1807C>T	ENSP00000505948.1:n.*1807C>T
ENST00000681834.1:n.1873C>T
ENST00000681862.1:c.*1660C>T	ENSP00000505537.1:n.*1660C>T
ENST00000256578.7:c.1696C>T	ENSP00000256578.3:p.Pro566Ser
ENST00000342115.8:c.1453C>T	ENSP00000345498.4:p.Pro485Ser
ENST00000358729.8:c.1471C>T	ENSP00000351573.4:p.Pro491Ser
ENST00000369840.6:c.1607C>T
ENST00000393688.7:c.1339C>T	ENSP00000377292.3:p.Pro447Ser
ENST00000467071.1:n.56C>T
ENST00000526301.5:n.1735C>T
ENST00000528454.5:c.1342C>T	ENSP00000437164.1:p.Pro448Ser
ENST00000528667.5:c.1696C>T	ENSP00000436541.1:p.Pro566Ser
ENST00000532851.1:n.244C>T
ENST00000533132.1:n.236C>T
NM_001257360.1:c.1696C>T	NP_001244289.1:p.Pro566Ser
NM_001257361.1:c.1342C>T	NP_001244290.1:p.Pro448Ser
NM_001308170.1:c.1471C>T	NP_001295099.1:p.Pro491Ser
NM_004037.7:c.1696C>T	NP_004028.3:p.Pro566Ser
NM_139156.3:c.1453C>T	NP_631895.1:p.Pro485Ser
NM_203404.1:c.1339C>T	NP_981949.1:p.Pro447Ser
XM_011541247.1:c.1909C>T	XP_011539549.1:p.Pro637Ser
XM_011541248.1:c.1782+274C>T	XP_011539550.1:n.1782+274C>T
XR_946607.1:n.1932C>T
XM_024446431.1:c.1471C>T	XP_024302199.1:p.Pro491Ser
XM_024446432.1:c.1430+274C>T	XP_024302200.1:n.1430+274C>T
XR_002956282.1:n.2107C>T
NM_001257360.2:c.1696C>T	NP_001244289.1:p.Pro566Ser
NM_001368809.2:c.1534C>T MANE Select	NP_001355738.1:p.Pro512Ser
NM_004037.9:c.1534C>T	NP_004028.4:p.Pro512Ser
NM_001257361.2:c.1342C>T	NP_001244290.1:p.Pro448Ser
NM_139156.4:c.1453C>T	NP_631895.1:p.Pro485Ser