Canonical Allele Identifier: CA156214

Gene: AMPD2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109630697G>C , CM000663.2:g.109630697G>C	GRCh38
NC_000001.10:g.110173319G>C , CM000663.1:g.110173319G>C	GRCh37
NC_000001.9:g.109974842G>C	NCBI36
NG_034075.1:g.15885G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.2172G>C	ENSP00000256578.4:p.Glu724Asp
ENST00000358729.9:c.2158-246G>C	ENSP00000351573.5:n.2158-246G>C
ENST00000369840.7:c.2205G>C	ENSP00000358855.3:p.Glu735Asp
ENST00000474459.6:n.2791G>C
ENST00000476688.3:c.1854G>C	ENSP00000437025.2:p.Glu618Asp
ENST00000486282.7:n.3426G>C
ENST00000524975.2:n.2955G>C
ENST00000525415.2:n.2684G>C
ENST00000526301.6:n.2235G>C
ENST00000527846.7:n.2027G>C
ENST00000528667.7:c.2172G>C MANE Select	ENSP00000436541.2:p.Glu724Asp
ENST00000531203.6:c.1980G>C	ENSP00000431975.2:p.Glu660Asp
ENST00000531734.6:c.2091G>C	ENSP00000433739.2:p.Glu697Asp
ENST00000652975.2:c.*1803G>C	ENSP00000499620.2:n.*1803G>C
ENST00000654851.1:n.2014G>C
ENST00000659122.2:c.2008G>C	ENSP00000499621.2:n.2008G>C
ENST00000663749.1:c.*1798G>C	ENSP00000499739.1:n.*1798G>C
ENST00000667949.2:c.1572G>C	ENSP00000499465.2:p.Glu524Asp
ENST00000668421.1:c.*2113G>C	ENSP00000499362.1:n.*2113G>C
ENST00000679379.1:c.*1924G>C	ENSP00000505528.1:n.*1924G>C
ENST00000679593.1:c.*281G>C	ENSP00000505999.1:n.*281G>C
ENST00000679880.1:n.2708G>C
ENST00000679892.1:c.*1940G>C	ENSP00000504882.1:n.*1940G>C
ENST00000679981.1:c.*2186G>C	ENSP00000506422.1:n.*2186G>C
ENST00000680132.1:c.*2122G>C	ENSP00000505950.1:n.*2122G>C
ENST00000680148.1:c.*1920G>C	ENSP00000505994.1:n.*1920G>C
ENST00000680170.1:n.3037G>C
ENST00000680192.1:n.3432G>C
ENST00000680519.1:n.2408G>C
ENST00000680531.1:c.*1919G>C	ENSP00000506332.1:n.*1919G>C
ENST00000680820.1:c.*2226G>C	ENSP00000505735.1:n.*2226G>C
ENST00000680832.1:c.*2272G>C	ENSP00000505774.1:n.*2272G>C
ENST00000680929.1:c.*1861G>C	ENSP00000504916.1:n.*1861G>C
ENST00000681108.1:c.*1846G>C	ENSP00000506701.1:n.*1846G>C
ENST00000681121.1:c.*1282G>C	ENSP00000506466.1:n.*1282G>C
ENST00000681132.1:c.*1938G>C	ENSP00000506195.1:n.*1938G>C
ENST00000681181.1:c.*2459G>C	ENSP00000506038.1:n.*2459G>C
ENST00000681218.1:c.*2441G>C	ENSP00000505976.1:n.*2441G>C
ENST00000681246.1:c.*1828G>C	ENSP00000505534.1:n.*1828G>C
ENST00000681496.1:c.*2445G>C	ENSP00000505948.1:n.*2445G>C
ENST00000681834.1:n.2816G>C
ENST00000681862.1:c.*2298G>C	ENSP00000505537.1:n.*2298G>C
ENST00000256578.7:c.2334G>C	ENSP00000256578.3:p.Glu778Asp
ENST00000342115.8:c.2091G>C	ENSP00000345498.4:p.Glu697Asp
ENST00000358729.8:c.2109G>C	ENSP00000351573.4:p.Glu703Asp
ENST00000369840.6:c.2278G>C
ENST00000393688.7:c.1977G>C	ENSP00000377292.3:p.Glu659Asp
ENST00000476688.2:c.486-246G>C
ENST00000479919.1:n.496G>C
ENST00000528454.5:c.1980G>C	ENSP00000437164.1:p.Glu660Asp
ENST00000528667.5:c.2334G>C	ENSP00000436541.1:p.Glu778Asp
ENST00000528958.1:n.60G>C
NM_001257360.1:c.2334G>C	NP_001244289.1:p.Glu778Asp
NM_001257361.1:c.1980G>C	NP_001244290.1:p.Glu660Asp
NM_001308170.1:c.2109G>C	NP_001295099.1:p.Glu703Asp
NM_004037.7:c.2334G>C	NP_004028.3:p.Glu778Asp
NM_139156.3:c.2091G>C	NP_631895.1:p.Glu697Asp
NM_203404.1:c.1977G>C	NP_981949.1:p.Glu659Asp
XM_011541247.1:c.2547G>C	XP_011539549.1:p.Glu849Asp
XR_946607.1:n.2449G>C
XM_024446431.1:c.2109G>C	XP_024302199.1:p.Glu703Asp
XM_024446432.1:c.2031G>C	XP_024302200.1:p.Glu677Asp
XR_002956282.1:n.2624G>C
NM_001257360.2:c.2334G>C	NP_001244289.1:p.Glu778Asp
NM_001368809.2:c.2172G>C MANE Select	NP_001355738.1:p.Glu724Asp
NM_004037.9:c.2172G>C	NP_004028.4:p.Glu724Asp
NM_001257361.2:c.1980G>C	NP_001244290.1:p.Glu660Asp
NM_139156.4:c.2091G>C	NP_631895.1:p.Glu697Asp