Canonical Allele Identifier: CA341558998

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171294A>T (hg19) ; chr1:g.109628672A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628672A>T , CM000663.2:g.109628672A>T	GRCh38
NC_000001.10:g.110171294A>T , CM000663.1:g.110171294A>T	GRCh37
NC_000001.9:g.109972817A>T	NCBI36
NG_034075.1:g.13860A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1437A>T	ENSP00000256578.4:p.Lys479Asn
ENST00000358729.9:c.1437A>T	ENSP00000351573.5:p.Lys479Asn
ENST00000369840.7:c.1437A>T	ENSP00000358855.3:p.Lys479Asn
ENST00000474459.6:n.2056A>T
ENST00000476688.3:c.1119A>T	ENSP00000437025.2:p.Lys373Asn
ENST00000486282.7:n.2393A>T
ENST00000524975.2:n.1918A>T
ENST00000525415.2:n.1953A>T
ENST00000526301.6:n.1500A>T
ENST00000527846.7:n.1292A>T
ENST00000528667.7:c.1437A>T MANE Select	ENSP00000436541.2:p.Lys479Asn
ENST00000531203.6:c.1245A>T	ENSP00000431975.2:p.Lys415Asn
ENST00000531734.6:c.1356A>T	ENSP00000433739.2:p.Lys452Asn
ENST00000652975.2:c.*1189A>T	ENSP00000499620.2:n.*1189A>T
ENST00000654851.1:n.1279A>T
ENST00000655992.1:c.1245A>T	ENSP00000499740.1:p.Lys415Asn
ENST00000659122.2:c.1407+177A>T	ENSP00000499621.2:n.1407+177A>T
ENST00000663749.1:c.*1184A>T	ENSP00000499739.1:n.*1184A>T
ENST00000667949.2:c.837A>T	ENSP00000499465.2:p.Lys279Asn
ENST00000668421.1:c.*1378A>T	ENSP00000499362.1:n.*1378A>T
ENST00000679379.1:c.*1189A>T	ENSP00000505528.1:n.*1189A>T
ENST00000679593.1:c.1437A>T	ENSP00000505999.1:p.Lys479Asn
ENST00000679880.1:n.1973A>T
ENST00000679892.1:c.*1205A>T	ENSP00000504882.1:n.*1205A>T
ENST00000679981.1:c.*1451A>T	ENSP00000506422.1:n.*1451A>T
ENST00000680132.1:c.*1387A>T	ENSP00000505950.1:n.*1387A>T
ENST00000680148.1:c.*1189A>T	ENSP00000505994.1:n.*1189A>T
ENST00000680170.1:n.2302A>T
ENST00000680192.1:n.2395A>T
ENST00000680519.1:n.1673A>T
ENST00000680531.1:c.*1184A>T	ENSP00000506332.1:n.*1184A>T
ENST00000680820.1:c.*1189A>T	ENSP00000505735.1:n.*1189A>T
ENST00000680832.1:c.*1537A>T	ENSP00000505774.1:n.*1537A>T
ENST00000680929.1:c.*1126A>T	ENSP00000504916.1:n.*1126A>T
ENST00000681108.1:c.*1245+177A>T	ENSP00000506701.1:n.*1245+177A>T
ENST00000681121.1:c.*547A>T	ENSP00000506466.1:n.*547A>T
ENST00000681132.1:c.*1203A>T	ENSP00000506195.1:n.*1203A>T
ENST00000681181.1:c.*1422A>T	ENSP00000506038.1:n.*1422A>T
ENST00000681218.1:c.*1710A>T	ENSP00000505976.1:n.*1710A>T
ENST00000681246.1:c.*1093A>T	ENSP00000505534.1:n.*1093A>T
ENST00000681496.1:c.*1710A>T	ENSP00000505948.1:n.*1710A>T
ENST00000681834.1:n.1776A>T
ENST00000681862.1:c.*1563A>T	ENSP00000505537.1:n.*1563A>T
ENST00000256578.7:c.1599A>T	ENSP00000256578.3:p.Lys533Asn
ENST00000342115.8:c.1356A>T	ENSP00000345498.4:p.Lys452Asn
ENST00000358729.8:c.1374A>T	ENSP00000351573.4:p.Lys458Asn
ENST00000369840.6:c.1510A>T
ENST00000393688.7:c.1242A>T	ENSP00000377292.3:p.Lys414Asn
ENST00000526301.5:n.1638A>T
ENST00000528454.5:c.1245A>T	ENSP00000437164.1:p.Lys415Asn
ENST00000528667.5:c.1599A>T	ENSP00000436541.1:p.Lys533Asn
ENST00000532851.1:n.147A>T
ENST00000533132.1:n.139A>T
NM_001257360.1:c.1599A>T	NP_001244289.1:p.Lys533Asn
NM_001257361.1:c.1245A>T	NP_001244290.1:p.Lys415Asn
NM_001308170.1:c.1374A>T	NP_001295099.1:p.Lys458Asn
NM_004037.7:c.1599A>T	NP_004028.3:p.Lys533Asn
NM_139156.3:c.1356A>T	NP_631895.1:p.Lys452Asn
NM_203404.1:c.1242A>T	NP_981949.1:p.Lys414Asn
XM_011541247.1:c.1812A>T	XP_011539549.1:p.Lys604Asn
XM_011541248.1:c.1782+177A>T	XP_011539550.1:n.1782+177A>T
XR_946607.1:n.1835A>T
XM_024446431.1:c.1374A>T	XP_024302199.1:p.Lys458Asn
XM_024446432.1:c.1430+177A>T	XP_024302200.1:n.1430+177A>T
XR_002956282.1:n.2010A>T
NM_001257360.2:c.1599A>T	NP_001244289.1:p.Lys533Asn
NM_001368809.2:c.1437A>T MANE Select	NP_001355738.1:p.Lys479Asn
NM_004037.9:c.1437A>T	NP_004028.4:p.Lys479Asn
NM_001257361.2:c.1245A>T	NP_001244290.1:p.Lys415Asn
NM_139156.4:c.1356A>T	NP_631895.1:p.Lys452Asn