Canonical Allele Identifier: CA270114075

Gene: B2M PATL2

Linked Data

• dbSNP Id: rs74929217
• gnomAD v2: 15-45003588-C-T
• gnomAD v3: 15-44711390-C-T
• gnomAD v4: 15-44711390-C-T
• MyVariant Identifiers: chr15:g.45003588C>T (hg19) ; chr15:g.44711390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711390C>T , CM000677.2:g.44711390C>T	GRCh38
NC_000015.9:g.45003588C>T , CM000677.1:g.45003588C>T	GRCh37
NC_000015.8:g.42790880C>T	NCBI36
NG_012920.1:g.4904C>T
NG_012920.2:g.4914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695792.1:n.33C>T (B2M)
XM_011521338.1:c.-624G>A (PATL2)	XP_011519640.1:n.-624G>A
XM_011521339.1:c.-505G>A (PATL2)	XP_011519641.1:n.-505G>A
XM_011521340.1:c.-446G>A (PATL2)	XP_011519642.1:n.-446G>A
XM_011521343.1:c.-708G>A (PATL2)	XP_011519645.1:n.-708G>A
XM_011521345.1:c.-679G>A (PATL2)	XP_011519647.1:n.-679G>A
XM_011521338.3:c.-624G>A (PATL2)	XP_011519640.1:n.-624G>A
XM_011521339.3:c.-505G>A (PATL2)	XP_011519641.1:n.-505G>A
XM_011521340.3:c.-446G>A (PATL2)	XP_011519642.1:n.-446G>A
XM_011521343.3:c.-708G>A (PATL2)	XP_011519645.1:n.-708G>A
XM_011521345.3:c.-679G>A (PATL2)	XP_011519647.1:n.-679G>A
NM_001387260.1:c.-134G>A (PATL2)	NP_001374189.1:n.-134G>A