Canonical Allele Identifier: CA341558970

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171284A>C (hg19) ; chr1:g.109628662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628662A>C , CM000663.2:g.109628662A>C	GRCh38
NC_000001.10:g.110171284A>C , CM000663.1:g.110171284A>C	GRCh37
NC_000001.9:g.109972807A>C	NCBI36
NG_034075.1:g.13850A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1427A>C	ENSP00000256578.4:p.Glu476Ala
ENST00000358729.9:c.1427A>C	ENSP00000351573.5:p.Glu476Ala
ENST00000369840.7:c.1427A>C	ENSP00000358855.3:p.Glu476Ala
ENST00000474459.6:n.2046A>C
ENST00000476688.3:c.1109A>C	ENSP00000437025.2:p.Glu370Ala
ENST00000486282.7:n.2383A>C
ENST00000524975.2:n.1908A>C
ENST00000525415.2:n.1943A>C
ENST00000526301.6:n.1490A>C
ENST00000527846.7:n.1282A>C
ENST00000528667.7:c.1427A>C MANE Select	ENSP00000436541.2:p.Glu476Ala
ENST00000531203.6:c.1235A>C	ENSP00000431975.2:p.Glu412Ala
ENST00000531734.6:c.1346A>C	ENSP00000433739.2:p.Glu449Ala
ENST00000652975.2:c.*1179A>C	ENSP00000499620.2:n.*1179A>C
ENST00000654851.1:n.1269A>C
ENST00000655992.1:c.1235A>C	ENSP00000499740.1:p.Glu412Ala
ENST00000659122.2:c.1407+167A>C	ENSP00000499621.2:n.1407+167A>C
ENST00000663749.1:c.*1174A>C	ENSP00000499739.1:n.*1174A>C
ENST00000667949.2:c.827A>C	ENSP00000499465.2:p.Glu276Ala
ENST00000668421.1:c.*1368A>C	ENSP00000499362.1:n.*1368A>C
ENST00000679379.1:c.*1179A>C	ENSP00000505528.1:n.*1179A>C
ENST00000679593.1:c.1427A>C	ENSP00000505999.1:p.Glu476Ala
ENST00000679880.1:n.1963A>C
ENST00000679892.1:c.*1195A>C	ENSP00000504882.1:n.*1195A>C
ENST00000679981.1:c.*1441A>C	ENSP00000506422.1:n.*1441A>C
ENST00000680132.1:c.*1377A>C	ENSP00000505950.1:n.*1377A>C
ENST00000680148.1:c.*1179A>C	ENSP00000505994.1:n.*1179A>C
ENST00000680170.1:n.2292A>C
ENST00000680192.1:n.2385A>C
ENST00000680519.1:n.1663A>C
ENST00000680531.1:c.*1174A>C	ENSP00000506332.1:n.*1174A>C
ENST00000680820.1:c.*1179A>C	ENSP00000505735.1:n.*1179A>C
ENST00000680832.1:c.*1527A>C	ENSP00000505774.1:n.*1527A>C
ENST00000680929.1:c.*1116A>C	ENSP00000504916.1:n.*1116A>C
ENST00000681108.1:c.*1245+167A>C	ENSP00000506701.1:n.*1245+167A>C
ENST00000681121.1:c.*537A>C	ENSP00000506466.1:n.*537A>C
ENST00000681132.1:c.*1193A>C	ENSP00000506195.1:n.*1193A>C
ENST00000681181.1:c.*1412A>C	ENSP00000506038.1:n.*1412A>C
ENST00000681218.1:c.*1700A>C	ENSP00000505976.1:n.*1700A>C
ENST00000681246.1:c.*1083A>C	ENSP00000505534.1:n.*1083A>C
ENST00000681496.1:c.*1700A>C	ENSP00000505948.1:n.*1700A>C
ENST00000681834.1:n.1766A>C
ENST00000681862.1:c.*1553A>C	ENSP00000505537.1:n.*1553A>C
ENST00000256578.7:c.1589A>C	ENSP00000256578.3:p.Glu530Ala
ENST00000342115.8:c.1346A>C	ENSP00000345498.4:p.Glu449Ala
ENST00000358729.8:c.1364A>C	ENSP00000351573.4:p.Glu455Ala
ENST00000369840.6:c.1500A>C
ENST00000393688.7:c.1232A>C	ENSP00000377292.3:p.Glu411Ala
ENST00000526301.5:n.1628A>C
ENST00000528454.5:c.1235A>C	ENSP00000437164.1:p.Glu412Ala
ENST00000528667.5:c.1589A>C	ENSP00000436541.1:p.Glu530Ala
ENST00000532851.1:n.137A>C
ENST00000533132.1:n.129A>C
NM_001257360.1:c.1589A>C	NP_001244289.1:p.Glu530Ala
NM_001257361.1:c.1235A>C	NP_001244290.1:p.Glu412Ala
NM_001308170.1:c.1364A>C	NP_001295099.1:p.Glu455Ala
NM_004037.7:c.1589A>C	NP_004028.3:p.Glu530Ala
NM_139156.3:c.1346A>C	NP_631895.1:p.Glu449Ala
NM_203404.1:c.1232A>C	NP_981949.1:p.Glu411Ala
XM_011541247.1:c.1802A>C	XP_011539549.1:p.Glu601Ala
XM_011541248.1:c.1782+167A>C	XP_011539550.1:n.1782+167A>C
XR_946607.1:n.1825A>C
XM_024446431.1:c.1364A>C	XP_024302199.1:p.Glu455Ala
XM_024446432.1:c.1430+167A>C	XP_024302200.1:n.1430+167A>C
XR_002956282.1:n.2000A>C
NM_001257360.2:c.1589A>C	NP_001244289.1:p.Glu530Ala
NM_001368809.2:c.1427A>C MANE Select	NP_001355738.1:p.Glu476Ala
NM_004037.9:c.1427A>C	NP_004028.4:p.Glu476Ala
NM_001257361.2:c.1235A>C	NP_001244290.1:p.Glu412Ala
NM_139156.4:c.1346A>C	NP_631895.1:p.Glu449Ala