Canonical Allele Identifier: CA341558958

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171278A>T (hg19) ; chr1:g.109628656A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628656A>T , CM000663.2:g.109628656A>T	GRCh38
NC_000001.10:g.110171278A>T , CM000663.1:g.110171278A>T	GRCh37
NC_000001.9:g.109972801A>T	NCBI36
NG_034075.1:g.13844A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1421A>T	ENSP00000256578.4:p.Asp474Val
ENST00000358729.9:c.1421A>T	ENSP00000351573.5:p.Asp474Val
ENST00000369840.7:c.1421A>T	ENSP00000358855.3:p.Asp474Val
ENST00000474459.6:n.2040A>T
ENST00000476688.3:c.1103A>T	ENSP00000437025.2:p.Asp368Val
ENST00000486282.7:n.2377A>T
ENST00000524975.2:n.1902A>T
ENST00000525415.2:n.1937A>T
ENST00000526301.6:n.1484A>T
ENST00000527846.7:n.1276A>T
ENST00000528667.7:c.1421A>T MANE Select	ENSP00000436541.2:p.Asp474Val
ENST00000531203.6:c.1229A>T	ENSP00000431975.2:p.Asp410Val
ENST00000531734.6:c.1340A>T	ENSP00000433739.2:p.Asp447Val
ENST00000652975.2:c.*1173A>T	ENSP00000499620.2:n.*1173A>T
ENST00000654851.1:n.1263A>T
ENST00000655992.1:c.1229A>T	ENSP00000499740.1:p.Asp410Val
ENST00000659122.2:c.1407+161A>T	ENSP00000499621.2:n.1407+161A>T
ENST00000663749.1:c.*1168A>T	ENSP00000499739.1:n.*1168A>T
ENST00000667949.2:c.821A>T	ENSP00000499465.2:p.Asp274Val
ENST00000668421.1:c.*1362A>T	ENSP00000499362.1:n.*1362A>T
ENST00000679379.1:c.*1173A>T	ENSP00000505528.1:n.*1173A>T
ENST00000679593.1:c.1421A>T	ENSP00000505999.1:p.Asp474Val
ENST00000679880.1:n.1957A>T
ENST00000679892.1:c.*1189A>T	ENSP00000504882.1:n.*1189A>T
ENST00000679981.1:c.*1435A>T	ENSP00000506422.1:n.*1435A>T
ENST00000680132.1:c.*1371A>T	ENSP00000505950.1:n.*1371A>T
ENST00000680148.1:c.*1173A>T	ENSP00000505994.1:n.*1173A>T
ENST00000680170.1:n.2286A>T
ENST00000680192.1:n.2379A>T
ENST00000680519.1:n.1657A>T
ENST00000680531.1:c.*1168A>T	ENSP00000506332.1:n.*1168A>T
ENST00000680820.1:c.*1173A>T	ENSP00000505735.1:n.*1173A>T
ENST00000680832.1:c.*1521A>T	ENSP00000505774.1:n.*1521A>T
ENST00000680929.1:c.*1110A>T	ENSP00000504916.1:n.*1110A>T
ENST00000681108.1:c.*1245+161A>T	ENSP00000506701.1:n.*1245+161A>T
ENST00000681121.1:c.*531A>T	ENSP00000506466.1:n.*531A>T
ENST00000681132.1:c.*1187A>T	ENSP00000506195.1:n.*1187A>T
ENST00000681181.1:c.*1406A>T	ENSP00000506038.1:n.*1406A>T
ENST00000681218.1:c.*1694A>T	ENSP00000505976.1:n.*1694A>T
ENST00000681246.1:c.*1077A>T	ENSP00000505534.1:n.*1077A>T
ENST00000681496.1:c.*1694A>T	ENSP00000505948.1:n.*1694A>T
ENST00000681834.1:n.1760A>T
ENST00000681862.1:c.*1547A>T	ENSP00000505537.1:n.*1547A>T
ENST00000256578.7:c.1583A>T	ENSP00000256578.3:p.Asp528Val
ENST00000342115.8:c.1340A>T	ENSP00000345498.4:p.Asp447Val
ENST00000358729.8:c.1358A>T	ENSP00000351573.4:p.Asp453Val
ENST00000369840.6:c.1494A>T
ENST00000393688.7:c.1226A>T	ENSP00000377292.3:p.Asp409Val
ENST00000526301.5:n.1622A>T
ENST00000528454.5:c.1229A>T	ENSP00000437164.1:p.Asp410Val
ENST00000528667.5:c.1583A>T	ENSP00000436541.1:p.Asp528Val
ENST00000532851.1:n.131A>T
ENST00000533132.1:n.123A>T
NM_001257360.1:c.1583A>T	NP_001244289.1:p.Asp528Val
NM_001257361.1:c.1229A>T	NP_001244290.1:p.Asp410Val
NM_001308170.1:c.1358A>T	NP_001295099.1:p.Asp453Val
NM_004037.7:c.1583A>T	NP_004028.3:p.Asp528Val
NM_139156.3:c.1340A>T	NP_631895.1:p.Asp447Val
NM_203404.1:c.1226A>T	NP_981949.1:p.Asp409Val
XM_011541247.1:c.1796A>T	XP_011539549.1:p.Asp599Val
XM_011541248.1:c.1782+161A>T	XP_011539550.1:n.1782+161A>T
XR_946607.1:n.1819A>T
XM_024446431.1:c.1358A>T	XP_024302199.1:p.Asp453Val
XM_024446432.1:c.1430+161A>T	XP_024302200.1:n.1430+161A>T
XR_002956282.1:n.1994A>T
NM_001257360.2:c.1583A>T	NP_001244289.1:p.Asp528Val
NM_001368809.2:c.1421A>T MANE Select	NP_001355738.1:p.Asp474Val
NM_004037.9:c.1421A>T	NP_004028.4:p.Asp474Val
NM_001257361.2:c.1229A>T	NP_001244290.1:p.Asp410Val
NM_139156.4:c.1340A>T	NP_631895.1:p.Asp447Val