Canonical Allele Identifier: CA56611179

Gene: LCT

Linked Data

• dbSNP Id: rs957199738
• gnomAD v2: 2-136564562-C-T
• gnomAD v3: 2-135806992-C-T
• gnomAD v4: 2-135806992-C-T
• MyVariant Identifiers: chr2:g.136564562C>T (hg19) ; chr2:g.135806992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135806992C>T , CM000664.2:g.135806992C>T	GRCh38
NC_000002.11:g.136564562C>T , CM000664.1:g.136564562C>T	GRCh37
NC_000002.10:g.136281032C>T	NCBI36
NG_008104.2:g.53178G>A , LRG_338:g.53178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4173+136G>A MANE Select	ENSP00000264162.2:n.4173+136G>A
ENST00000264162.6:c.4173+136G>A	ENSP00000264162.2:n.4173+136G>A
ENST00000452974.1:c.2469+136G>A	ENSP00000391231.1:n.2469+136G>A
NM_002299.2:c.4173+136G>A , LRG_338t1:c.4173+136G>A	NP_002290.2:n.4173+136G>A
NM_002299.3:c.4173+136G>A	NP_002290.2:n.4173+136G>A
XM_017004088.2:c.4173+136G>A	XP_016859577.1:n.4173+136G>A
NM_002299.4:c.4173+136G>A MANE Select	NP_002290.2:n.4173+136G>A