Canonical Allele Identifier: CA350097330

Gene: CRYGC

Linked Data

• dbSNP Id: rs2105859273
• gnomAD v3: 2-208129586-A-G
• gnomAD v4: 2-208129586-A-G
• MyVariant Identifiers: chr2:g.208994310A>G (hg19) ; chr2:g.208129586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129586A>G , CM000664.2:g.208129586A>G	GRCh38
NC_000002.11:g.208994310A>G , CM000664.1:g.208994310A>G	GRCh37
NC_000002.10:g.208702555A>G	NCBI36
NG_008038.1:g.5245T>C
NG_008039.1:g.4T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282141.4:c.107T>C MANE Select	ENSP00000282141.3:p.Ile36Thr
ENST00000282141.3:c.107T>C	ENSP00000282141.3:p.Ile36Thr
NM_020989.3:c.107T>C	NP_066269.1:p.Ile36Thr
NR_038437.1:n.98-7470A>G
XM_011510661.1:c.107T>C	XP_011508963.1:p.Ile36Thr
XM_011510662.1:c.107T>C	XP_011508964.1:p.Ile36Thr
XM_011510663.1:c.-23T>C	XP_011508965.1:n.-23T>C
NM_020989.4:c.107T>C MANE Select	NP_066269.1:p.Ile36Thr