Canonical Allele Identifier: CA341558946

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171273G>C (hg19) ; chr1:g.109628651G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628651G>C , CM000663.2:g.109628651G>C	GRCh38
NC_000001.10:g.110171273G>C , CM000663.1:g.110171273G>C	GRCh37
NC_000001.9:g.109972796G>C	NCBI36
NG_034075.1:g.13839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1416G>C	ENSP00000256578.4:p.Met472Ile
ENST00000358729.9:c.1416G>C	ENSP00000351573.5:p.Met472Ile
ENST00000369840.7:c.1416G>C	ENSP00000358855.3:p.Met472Ile
ENST00000474459.6:n.2035G>C
ENST00000476688.3:c.1098G>C	ENSP00000437025.2:p.Met366Ile
ENST00000486282.7:n.2372G>C
ENST00000524975.2:n.1897G>C
ENST00000525415.2:n.1932G>C
ENST00000526301.6:n.1479G>C
ENST00000527846.7:n.1271G>C
ENST00000528667.7:c.1416G>C MANE Select	ENSP00000436541.2:p.Met472Ile
ENST00000531203.6:c.1224G>C	ENSP00000431975.2:p.Met408Ile
ENST00000531734.6:c.1335G>C	ENSP00000433739.2:p.Met445Ile
ENST00000652975.2:c.*1168G>C	ENSP00000499620.2:n.*1168G>C
ENST00000654851.1:n.1258G>C
ENST00000655992.1:c.1224G>C	ENSP00000499740.1:p.Met408Ile
ENST00000659122.2:c.1407+156G>C	ENSP00000499621.2:n.1407+156G>C
ENST00000663749.1:c.*1163G>C	ENSP00000499739.1:n.*1163G>C
ENST00000667949.2:c.816G>C	ENSP00000499465.2:p.Met272Ile
ENST00000668421.1:c.*1357G>C	ENSP00000499362.1:n.*1357G>C
ENST00000679379.1:c.*1168G>C	ENSP00000505528.1:n.*1168G>C
ENST00000679593.1:c.1416G>C	ENSP00000505999.1:p.Met472Ile
ENST00000679880.1:n.1952G>C
ENST00000679892.1:c.*1184G>C	ENSP00000504882.1:n.*1184G>C
ENST00000679981.1:c.*1430G>C	ENSP00000506422.1:n.*1430G>C
ENST00000680132.1:c.*1366G>C	ENSP00000505950.1:n.*1366G>C
ENST00000680148.1:c.*1168G>C	ENSP00000505994.1:n.*1168G>C
ENST00000680170.1:n.2281G>C
ENST00000680192.1:n.2374G>C
ENST00000680519.1:n.1652G>C
ENST00000680531.1:c.*1163G>C	ENSP00000506332.1:n.*1163G>C
ENST00000680820.1:c.*1168G>C	ENSP00000505735.1:n.*1168G>C
ENST00000680832.1:c.*1516G>C	ENSP00000505774.1:n.*1516G>C
ENST00000680929.1:c.*1105G>C	ENSP00000504916.1:n.*1105G>C
ENST00000681108.1:c.*1245+156G>C	ENSP00000506701.1:n.*1245+156G>C
ENST00000681121.1:c.*526G>C	ENSP00000506466.1:n.*526G>C
ENST00000681132.1:c.*1182G>C	ENSP00000506195.1:n.*1182G>C
ENST00000681181.1:c.*1401G>C	ENSP00000506038.1:n.*1401G>C
ENST00000681218.1:c.*1689G>C	ENSP00000505976.1:n.*1689G>C
ENST00000681246.1:c.*1072G>C	ENSP00000505534.1:n.*1072G>C
ENST00000681496.1:c.*1689G>C	ENSP00000505948.1:n.*1689G>C
ENST00000681834.1:n.1755G>C
ENST00000681862.1:c.*1542G>C	ENSP00000505537.1:n.*1542G>C
ENST00000256578.7:c.1578G>C	ENSP00000256578.3:p.Met526Ile
ENST00000342115.8:c.1335G>C	ENSP00000345498.4:p.Met445Ile
ENST00000358729.8:c.1353G>C	ENSP00000351573.4:p.Met451Ile
ENST00000369840.6:c.1489G>C
ENST00000393688.7:c.1221G>C	ENSP00000377292.3:p.Met407Ile
ENST00000526301.5:n.1617G>C
ENST00000528454.5:c.1224G>C	ENSP00000437164.1:p.Met408Ile
ENST00000528667.5:c.1578G>C	ENSP00000436541.1:p.Met526Ile
ENST00000532851.1:n.126G>C
ENST00000533132.1:n.118G>C
NM_001257360.1:c.1578G>C	NP_001244289.1:p.Met526Ile
NM_001257361.1:c.1224G>C	NP_001244290.1:p.Met408Ile
NM_001308170.1:c.1353G>C	NP_001295099.1:p.Met451Ile
NM_004037.7:c.1578G>C	NP_004028.3:p.Met526Ile
NM_139156.3:c.1335G>C	NP_631895.1:p.Met445Ile
NM_203404.1:c.1221G>C	NP_981949.1:p.Met407Ile
XM_011541247.1:c.1791G>C	XP_011539549.1:p.Met597Ile
XM_011541248.1:c.1782+156G>C	XP_011539550.1:n.1782+156G>C
XR_946607.1:n.1814G>C
XM_024446431.1:c.1353G>C	XP_024302199.1:p.Met451Ile
XM_024446432.1:c.1430+156G>C	XP_024302200.1:n.1430+156G>C
XR_002956282.1:n.1989G>C
NM_001257360.2:c.1578G>C	NP_001244289.1:p.Met526Ile
NM_001368809.2:c.1416G>C MANE Select	NP_001355738.1:p.Met472Ile
NM_004037.9:c.1416G>C	NP_004028.4:p.Met472Ile
NM_001257361.2:c.1224G>C	NP_001244290.1:p.Met408Ile
NM_139156.4:c.1335G>C	NP_631895.1:p.Met445Ile