Canonical Allele Identifier: CA439976671

Gene: BMP2K

Linked Data

• MyVariant Identifiers: chr4:g.79786840T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865686T>C , CM000666.2:g.78865686T>C	GRCh38
NC_000004.11:g.79786840T>C , CM000666.1:g.79786840T>C	GRCh37
NC_000004.10:g.80005864T>C	NCBI36
NG_047162.1:g.94309T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1197T>C MANE Select	ENSP00000424668.2:p.Leu399=
ENST00000335016.9:c.1197T>C	ENSP00000334836.5:p.Leu399=
ENST00000389010.7:c.*173T>C	ENSP00000373662.3:n.*173T>C
ENST00000502613.1:c.274T>C
ENST00000502871.5:c.1197T>C	ENSP00000421768.1:p.Leu399=
ENST00000505725.1:n.479T>C
ENST00000628286.1:c.*173T>C	ENSP00000487317.1:n.*173T>C
NM_017593.3:c.1197T>C	NP_060063.2:p.Leu399=
NM_198892.1:c.1197T>C	NP_942595.1:p.Leu399=
XM_005263117.1:c.1197T>C	XP_005263174.1:p.Leu399=
XM_011532101.1:c.957T>C	XP_011530403.1:p.Leu319=
XM_011532102.1:c.1197T>C	XP_011530404.1:p.Leu399=
XM_017008381.1:c.957T>C	XP_016863870.1:p.Leu319=
XM_017008382.1:c.309T>C	XP_016863871.1:p.Leu103=
NM_017593.4:c.1197T>C	NP_060063.2:p.Leu399=
NM_017593.5:c.1197T>C	NP_060063.2:p.Leu399=
NM_198892.2:c.1197T>C MANE Select	NP_942595.1:p.Leu399=