Canonical Allele Identifier: CA533249136

Gene: ZNF638

Linked Data

• dbSNP Id: rs1337191370
• gnomAD v2: 2-71609070-T-G
• gnomAD v3: 2-71381940-T-G
• gnomAD v4: 2-71381940-T-G
• MyVariant Identifiers: chr2:g.71609070T>G (hg19) ; chr2:g.71381940T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71381940T>G , CM000664.2:g.71381940T>G	GRCh38
NC_000002.11:g.71609070T>G , CM000664.1:g.71609070T>G	GRCh37
NC_000002.10:g.71462578T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264447.9:c.2377+1375T>G MANE Select	ENSP00000264447.4:n.2377+1375T>G
ENST00000264447.8:c.2377+1375T>G	ENSP00000264447.4:n.2377+1375T>G
ENST00000409544.5:c.2377+1375T>G	ENSP00000386433.1:n.2377+1375T>G
ENST00000410075.5:c.2377+1375T>G	ENSP00000485608.1:n.2377+1375T>G
ENST00000491843.2:n.224+1037T>G
NM_001014972.2:c.2377+1375T>G	NP_001014972.1:n.2377+1375T>G
NM_001252612.1:c.2377+1375T>G	NP_001239541.1:n.2377+1375T>G
NM_001252613.1:c.2377+1375T>G	NP_001239542.1:n.2377+1375T>G
NM_014497.4:c.2377+1375T>G	NP_055312.2:n.2377+1375T>G
XM_005264263.1:c.844+1375T>G	XP_005264320.1:n.844+1375T>G
XM_006711989.1:c.844+1375T>G	XP_006712052.1:n.844+1375T>G
XM_011532767.1:c.2377+1375T>G	XP_011531069.1:n.2377+1375T>G
XM_011532768.1:c.2377+1375T>G	XP_011531070.1:n.2377+1375T>G
XM_011532769.1:c.2377+1375T>G	XP_011531071.1:n.2377+1375T>G
XR_939678.1:n.2492+1375T>G
XM_011532768.3:c.2695+1375T>G	XP_011531070.2:n.2695+1375T>G
XM_017003809.2:c.2695+1375T>G	XP_016859298.1:n.2695+1375T>G
XM_017003810.2:c.2377+1375T>G	XP_016859299.1:n.2377+1375T>G
XM_017003812.2:c.2695+1375T>G	XP_016859301.1:n.2695+1375T>G
XR_001738706.2:n.2741+1375T>G
XR_001738707.2:n.2679+1375T>G
XR_002959264.1:n.2741+1375T>G
XR_002959265.1:n.2741+1375T>G
XR_002959266.1:n.2741+1375T>G
XR_939678.3:n.2741+1375T>G
NM_014497.5:c.2377+1375T>G MANE Select	NP_055312.2:n.2377+1375T>G
NM_001014972.3:c.2377+1375T>G	NP_001014972.1:n.2377+1375T>G
NM_001252612.2:c.2377+1375T>G	NP_001239541.1:n.2377+1375T>G
NM_001252613.2:c.2377+1375T>G	NP_001239542.1:n.2377+1375T>G