Canonical Allele Identifier: CA341559105

Gene: AMPD2

Linked Data

• gnomAD v4: 1-109628722-A-C
• MyVariant Identifiers: chr1:g.110171344A>C (hg19) ; chr1:g.109628722A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628722A>C , CM000663.2:g.109628722A>C	GRCh38
NC_000001.10:g.110171344A>C , CM000663.1:g.110171344A>C	GRCh37
NC_000001.9:g.109972867A>C	NCBI36
NG_034075.1:g.13910A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1487A>C	ENSP00000256578.4:p.Glu496Ala
ENST00000358729.9:c.1487A>C	ENSP00000351573.5:p.Glu496Ala
ENST00000369840.7:c.1487A>C	ENSP00000358855.3:p.Glu496Ala
ENST00000474459.6:n.2106A>C
ENST00000476688.3:c.1169A>C	ENSP00000437025.2:p.Glu390Ala
ENST00000486282.7:n.2443A>C
ENST00000524975.2:n.1968A>C
ENST00000525415.2:n.2003A>C
ENST00000526301.6:n.1550A>C
ENST00000527846.7:n.1342A>C
ENST00000528667.7:c.1487A>C MANE Select	ENSP00000436541.2:p.Glu496Ala
ENST00000531203.6:c.1295A>C	ENSP00000431975.2:p.Glu432Ala
ENST00000531734.6:c.1406A>C	ENSP00000433739.2:p.Glu469Ala
ENST00000652975.2:c.*1239A>C	ENSP00000499620.2:n.*1239A>C
ENST00000654851.1:n.1329A>C
ENST00000655992.1:c.1295A>C	ENSP00000499740.1:p.Glu432Ala
ENST00000659122.2:c.1407+227A>C	ENSP00000499621.2:n.1407+227A>C
ENST00000663749.1:c.*1234A>C	ENSP00000499739.1:n.*1234A>C
ENST00000667949.2:c.887A>C	ENSP00000499465.2:p.Glu296Ala
ENST00000668421.1:c.*1428A>C	ENSP00000499362.1:n.*1428A>C
ENST00000679379.1:c.*1239A>C	ENSP00000505528.1:n.*1239A>C
ENST00000679593.1:c.1487A>C	ENSP00000505999.1:p.Glu496Ala
ENST00000679880.1:n.2023A>C
ENST00000679892.1:c.*1255A>C	ENSP00000504882.1:n.*1255A>C
ENST00000679981.1:c.*1501A>C	ENSP00000506422.1:n.*1501A>C
ENST00000680132.1:c.*1437A>C	ENSP00000505950.1:n.*1437A>C
ENST00000680148.1:c.*1239A>C	ENSP00000505994.1:n.*1239A>C
ENST00000680170.1:n.2352A>C
ENST00000680192.1:n.2445A>C
ENST00000680519.1:n.1723A>C
ENST00000680531.1:c.*1234A>C	ENSP00000506332.1:n.*1234A>C
ENST00000680820.1:c.*1239A>C	ENSP00000505735.1:n.*1239A>C
ENST00000680832.1:c.*1587A>C	ENSP00000505774.1:n.*1587A>C
ENST00000680929.1:c.*1176A>C	ENSP00000504916.1:n.*1176A>C
ENST00000681108.1:c.*1245+227A>C	ENSP00000506701.1:n.*1245+227A>C
ENST00000681121.1:c.*597A>C	ENSP00000506466.1:n.*597A>C
ENST00000681132.1:c.*1253A>C	ENSP00000506195.1:n.*1253A>C
ENST00000681181.1:c.*1472A>C	ENSP00000506038.1:n.*1472A>C
ENST00000681218.1:c.*1760A>C	ENSP00000505976.1:n.*1760A>C
ENST00000681246.1:c.*1143A>C	ENSP00000505534.1:n.*1143A>C
ENST00000681496.1:c.*1760A>C	ENSP00000505948.1:n.*1760A>C
ENST00000681834.1:n.1826A>C
ENST00000681862.1:c.*1613A>C	ENSP00000505537.1:n.*1613A>C
ENST00000256578.7:c.1649A>C	ENSP00000256578.3:p.Glu550Ala
ENST00000342115.8:c.1406A>C	ENSP00000345498.4:p.Glu469Ala
ENST00000358729.8:c.1424A>C	ENSP00000351573.4:p.Glu475Ala
ENST00000369840.6:c.1560A>C
ENST00000393688.7:c.1292A>C	ENSP00000377292.3:p.Glu431Ala
ENST00000467071.1:n.9A>C
ENST00000526301.5:n.1688A>C
ENST00000528454.5:c.1295A>C	ENSP00000437164.1:p.Glu432Ala
ENST00000528667.5:c.1649A>C	ENSP00000436541.1:p.Glu550Ala
ENST00000532851.1:n.197A>C
ENST00000533132.1:n.189A>C
NM_001257360.1:c.1649A>C	NP_001244289.1:p.Glu550Ala
NM_001257361.1:c.1295A>C	NP_001244290.1:p.Glu432Ala
NM_001308170.1:c.1424A>C	NP_001295099.1:p.Glu475Ala
NM_004037.7:c.1649A>C	NP_004028.3:p.Glu550Ala
NM_139156.3:c.1406A>C	NP_631895.1:p.Glu469Ala
NM_203404.1:c.1292A>C	NP_981949.1:p.Glu431Ala
XM_011541247.1:c.1862A>C	XP_011539549.1:p.Glu621Ala
XM_011541248.1:c.1782+227A>C	XP_011539550.1:n.1782+227A>C
XR_946607.1:n.1885A>C
XM_024446431.1:c.1424A>C	XP_024302199.1:p.Glu475Ala
XM_024446432.1:c.1430+227A>C	XP_024302200.1:n.1430+227A>C
XR_002956282.1:n.2060A>C
NM_001257360.2:c.1649A>C	NP_001244289.1:p.Glu550Ala
NM_001368809.2:c.1487A>C MANE Select	NP_001355738.1:p.Glu496Ala
NM_004037.9:c.1487A>C	NP_004028.4:p.Glu496Ala
NM_001257361.2:c.1295A>C	NP_001244290.1:p.Glu432Ala
NM_139156.4:c.1406A>C	NP_631895.1:p.Glu469Ala